Incidental Mutation 'IGL02934:Manba'
ID 364212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Manba
Ensembl Gene ENSMUSG00000028164
Gene Name mannosidase, beta A, lysosomal
Synonyms B930014J03Rik, Bmn, 2410030O07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02934
Quality Score
Status
Chromosome 3
Chromosomal Location 135191372-135277165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135250510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 379 (V379A)
Ref Sequence ENSEMBL: ENSMUSP00000029814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029814] [ENSMUST00000131610]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029814
AA Change: V379A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: V379A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_2_N 42 211 6.5e-11 PFAM
Pfam:Glyco_hydro_2_C 340 595 3.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123061
Predicted Effect probably benign
Transcript: ENSMUST00000131610
SMART Domains Protein: ENSMUSP00000122148
Gene: ENSMUSG00000028164

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_2_N 22 163 1.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147872
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Manba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Manba APN 3 135,260,541 (GRCm39) nonsense probably null
IGL01443:Manba APN 3 135,250,589 (GRCm39) missense probably damaging 1.00
IGL01796:Manba APN 3 135,248,150 (GRCm39) missense probably damaging 1.00
IGL02396:Manba APN 3 135,250,525 (GRCm39) missense probably damaging 1.00
IGL02471:Manba APN 3 135,212,769 (GRCm39) splice site probably benign
IGL02809:Manba APN 3 135,253,321 (GRCm39) missense probably damaging 1.00
IGL02861:Manba APN 3 135,276,024 (GRCm39) missense probably benign 0.03
IGL03130:Manba APN 3 135,256,920 (GRCm39) missense probably damaging 1.00
IGL03237:Manba APN 3 135,250,512 (GRCm39) missense probably damaging 1.00
IGL03342:Manba APN 3 135,223,748 (GRCm39) missense possibly damaging 0.51
R0551:Manba UTSW 3 135,223,734 (GRCm39) missense probably damaging 0.98
R1549:Manba UTSW 3 135,250,567 (GRCm39) missense probably damaging 1.00
R1752:Manba UTSW 3 135,212,706 (GRCm39) missense probably damaging 1.00
R1932:Manba UTSW 3 135,250,501 (GRCm39) missense probably benign 0.01
R1991:Manba UTSW 3 135,256,952 (GRCm39) missense probably benign 0.05
R3729:Manba UTSW 3 135,260,611 (GRCm39) missense probably benign 0.00
R3731:Manba UTSW 3 135,260,611 (GRCm39) missense probably benign 0.00
R3813:Manba UTSW 3 135,269,023 (GRCm39) missense possibly damaging 0.67
R4712:Manba UTSW 3 135,250,575 (GRCm39) missense probably damaging 1.00
R5001:Manba UTSW 3 135,273,391 (GRCm39) missense probably benign 0.00
R5481:Manba UTSW 3 135,230,317 (GRCm39) missense possibly damaging 0.86
R5889:Manba UTSW 3 135,230,359 (GRCm39) nonsense probably null
R6033:Manba UTSW 3 135,255,022 (GRCm39) missense probably benign 0.00
R6033:Manba UTSW 3 135,255,022 (GRCm39) missense probably benign 0.00
R6434:Manba UTSW 3 135,217,734 (GRCm39) splice site probably null
R6760:Manba UTSW 3 135,248,212 (GRCm39) missense probably damaging 0.98
R7164:Manba UTSW 3 135,248,149 (GRCm39) missense probably damaging 1.00
R7182:Manba UTSW 3 135,273,274 (GRCm39) missense probably benign 0.06
R7184:Manba UTSW 3 135,228,915 (GRCm39) missense possibly damaging 0.62
R7212:Manba UTSW 3 135,273,396 (GRCm39) missense probably benign
R7266:Manba UTSW 3 135,223,673 (GRCm39) missense probably damaging 1.00
R7271:Manba UTSW 3 135,248,137 (GRCm39) missense probably damaging 1.00
R7466:Manba UTSW 3 135,248,154 (GRCm39) missense probably benign 0.13
R7467:Manba UTSW 3 135,250,562 (GRCm39) missense probably damaging 1.00
R7542:Manba UTSW 3 135,272,354 (GRCm39) missense probably benign 0.10
R7546:Manba UTSW 3 135,276,007 (GRCm39) missense probably benign 0.01
R7726:Manba UTSW 3 135,223,770 (GRCm39) missense probably benign 0.14
R8475:Manba UTSW 3 135,217,573 (GRCm39) missense probably benign 0.13
R8768:Manba UTSW 3 135,256,995 (GRCm39) missense probably damaging 1.00
R8856:Manba UTSW 3 135,223,764 (GRCm39) missense probably damaging 0.98
R9140:Manba UTSW 3 135,191,490 (GRCm39) missense probably benign
R9449:Manba UTSW 3 135,255,079 (GRCm39) missense probably benign 0.01
Z1176:Manba UTSW 3 135,269,035 (GRCm39) nonsense probably null
Posted On 2015-12-18